Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal respiratory system physiology (HP:0002795)

Grandparent Node:
Dermatological manifestations of systemic disorders (HP:0001005)

Parent Node:
Cyanosis (HP:0000961)

..Starting node
..Acrocyanosis (HP:0001063)

Term ID:

1063

Name:

Acrocyanosis

Synonym:

Persistent blue color of hands or feet; Persistent blue colour of hands or feet

Definition:

Bluish discoloration of the skin of the hands or feet.

Comments:

Reference:

HP:0001063

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cyanotic episode (HP:0200048)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001063	HP:0001063	Acrocyanosis	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	116
HP:0001063	HP:0001063	Acrocyanosis	0	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I	.	260
HP:0001063	HP:0001063	Acrocyanosis	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0001063	HP:0001063	Acrocyanosis	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0001063	HP:0001063	Acrocyanosis	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0001063	HP:0001063	Acrocyanosis	0	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia	HP:0040283 - Occasional	133
HP:0001063	HP:0001063	Acrocyanosis	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.	133
HP:0001063	HP:0001063	Acrocyanosis	0	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic	.	42
HP:0001063	HP:0001063	Acrocyanosis	0	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy	HP:0040282 - Frequent	42
HP:0001063	HP:0001063	Acrocyanosis	0	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis	HP:0040283 - Occasional	43
HP:0001063	HP:0001063	Acrocyanosis	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	28
HP:0001063	HP:0001063	Acrocyanosis	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0001063	HP:0001063	Acrocyanosis	0	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever	HP:0040283 - Occasional	150
HP:0001063	HP:0001063	Acrocyanosis	0	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3	HP:0040283 - Occasional	59
HP:0001063	HP:0001063	Acrocyanosis	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	33
HP:0001063	HP:0001063	Acrocyanosis	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	34
HP:0001063	HP:0001063	Acrocyanosis	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	60
HP:0001063	HP:0001063	Acrocyanosis	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0001063	HP:0001063	Acrocyanosis	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0001063	HP:0001063	Acrocyanosis	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	55
HP:0001063	HP:0001063	Acrocyanosis	0	SEPTIN9 CL E G H	10801	7323	ORPHA:2901	Neuralgic amyotrophy	HP:0040283 - Occasional
HP:0001063	HP:0001063	Acrocyanosis	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040282 - Frequent	241
HP:0001063	HP:0001063	Acrocyanosis	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	56
HP:0001063	HP:0001063	Acrocyanosis	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1	.	56

Genes (21) :ADAR AGXT COL1A1 COL5A1 COL5A2 ELP1 ETHE1 FUCA1 IFIH1 LSM11 MVK PAX3 RNASEH2A RNASEH2B RNASEH2C RNU7-1 RPS6KA3 SAMHD1 SEPTIN9 TCF4 TREX1

Diseases (14) :ORPHA:51 OMIM:259900 ORPHA:287 ORPHA:1764 OMIM:223900 OMIM:602473 ORPHA:51188 ORPHA:349 ORPHA:343 ORPHA:896 OMIM:303600 ORPHA:2901 ORPHA:2896 OMIM:225750

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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